| Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel‐Gruber syndrome V Frank, AI den Hollander, NO Brüchle, MN Zonneveld, G Nürnberg, ... Human mutation 29 (1), 45-52, 2008 | 204 | 2008 |
| Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders AAHJ Thiadens, AI den Hollander, S Roosing, SB Nabuurs, ... The American journal of human genetics 85 (2), 240-247, 2009 | 181 | 2009 |
| Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia S Kohl, D Zobor, WC Chiang, N Weisschuh, J Staller, IG Menendez, ... Nature genetics 47 (7), 757-765, 2015 | 141 | 2015 |
| An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes G Wheway, M Schmidts, DA Mans, K Szymanska, TMT Nguyen, H Racher, ... Nature cell biology 17 (8), 1074-1087, 2015 | 138 | 2015 |
| Progressive loss of cones in achromatopsia: an imaging study using spectral-domain optical coherence tomography AAHJ Thiadens, V Somervuo, LI van den Born, S Roosing, ... Investigative ophthalmology & visual science 51 (11), 5952-5957, 2010 | 134 | 2010 |
| A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia S Kohl, F Coppieters, F Meire, S Schaich, S Roosing, C Brennenstuhl, ... The American Journal of Human Genetics 91 (3), 527-532, 2012 | 116 | 2012 |
| Causes and consequences of inherited cone disorders S Roosing, AAHJ Thiadens, CB Hoyng, CCW Klaver, AI den Hollander, ... Progress in retinal and eye research 42, 1-26, 2014 | 113 | 2014 |
| Genetic etiology and clinical consequences of complete and incomplete achromatopsia AAHJ Thiadens, NWR Slingerland, S Roosing, MJ van Schooneveld, ... Ophthalmology 116 (10), 1984-1989. e1, 2009 | 109 | 2009 |
| Homozygosity mapping in patients with cone–rod dystrophy: novel mutations and clinical characterizations KW Littink, RK Koenekoop, LI van den Born, RWJ Collin, L Moruz, ... Investigative ophthalmology & visual science 51 (11), 5943-5951, 2010 | 102 | 2010 |
| Clinical course, genetic etiology, and visual outcome in cone and cone–rod dystrophy AAHJ Thiadens, TML Phan, RC Zekveld-Vroon, BP Leroy, ... Ophthalmology 119 (4), 819-826, 2012 | 97 | 2012 |
| Mutations in RAB28, encoding a farnesylated small GTPase, are associated with autosomal-recessive cone-rod dystrophy S Roosing, K Rohrschneider, A Beryozkin, D Sharon, N Weisschuh, ... The American Journal of Human Genetics 93 (1), 110-117, 2013 | 73 | 2013 |
| A Novel Homozygous Nonsense Mutation in CABP4 Causes Congenital Cone–Rod Synaptic Disorder KW Littink, MM van Genderen, RWJ Collin, S Roosing, APM de Brouwer, ... Investigative ophthalmology & visual science 50 (5), 2344-2350, 2009 | 71 | 2009 |
| Comprehensive analysis of the achromatopsia genes CNGA3 and CNGB3 in progressive cone dystrophy AAHJ Thiadens, S Roosing, RWJ Collin, N van Moll-Ramirez, ... Ophthalmology 117 (4), 825-830. e1, 2010 | 66 | 2010 |
| Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome S Roosing, M Hofree, S Kim, E Scott, B Copeland, M Romani, JL Silhavy, ... Elife 4, e06602, 2015 | 60 | 2015 |
| The ciliopathy-associated protein homologs RPGRIP1 and RPGRIP1L are linked to cilium integrity through interaction with Nek4 serine/threonine kinase KLM Coene, DA Mans, K Boldt, CJ Gloeckner, J van Reeuwijk, E Bolat, ... Human molecular genetics 20 (18), 3592-3605, 2011 | 60 | 2011 |
| Heterozygous Deep‐Intronic Variants and Deletions in ABCA4 in Persons with Retinal Dystrophies and One Exonic ABCA4 Variant NM Bax, R Sangermano, S Roosing, AAHJ Thiadens, LH Hoefsloot, ... Human mutation 36 (1), 43-47, 2015 | 59 | 2015 |
| Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy S Roosing, IJC Lamers, E de Vrieze, LI van den Born, S Lambertus, ... The American Journal of Human Genetics 95 (2), 131-142, 2014 | 46 | 2014 |
| Non-syndromic retinitis pigmentosa due to mutations in the mucopolysaccharidosis type IIIC gene, heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT) L Haer-Wigman, H Newman, R Leibu, NM Bax, HN Baris, L Rizel, E Banin, ... Human molecular genetics 24 (13), 3742-3751, 2015 | 45 | 2015 |
| Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes S Roosing, M Romani, M Isrie, RO Rosti, A Micalizzi, D Musaev, T Mazza, ... Journal of medical genetics 53 (9), 608-615, 2016 | 43 | 2016 |
| Mutations in MFSD8, encoding a lysosomal membrane protein, are associated with nonsyndromic autosomal recessive macular dystrophy S Roosing, LI van den Born, R Sangermano, S Banfi, RK Koenekoop, ... Ophthalmology 122 (1), 170-179, 2015 | 38 | 2015 |
